Variant (rsID / SNP)
rs375294947
rs375294947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRG2. Location: chromosome 5, position 161,569,328. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GABRG2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:161569328
- Cytoband
- 5q34
- HGVS
- NM_198904.4(GABRG2):c.922+6A>G
- Allele change
- Silent
Associated conditions / phenotypes
Epilepsy, childhood absence 2|Epilepsy, childhood absence 2|Febrile seizures, familial, 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.